Babb Anna, Solaiman Susannah, Green Brian N, Mantio Debbie, Patel Ketan
Department of Haematology, Imperial College Healthcare National Health Service (NHS) Trust, Hammersmith Hospital, London W12 0HS, Middlesex, UK.
Hemoglobin. 2009;33(6):503-6. doi: 10.3109/03630260903344259.
Routine antenatal hemoglobinopathy screening detected a new alpha chain variant that eluted with Hb A(2) on cation exchange high performance liquid chromatography (HPLC) in a lady of Sri Lankan origin who had normal hematological indices. The mutation was identified by electrospray ionization mass spectrometry (ESI-MS) as alpha46(CE4)Phe-->Val, inferring that the variant was due to a single base change at codon 46 (TTC>GTC) of the alpha1- or alpha2-globin genes.
常规产前血红蛋白病筛查在一位血液学指标正常的斯里兰卡裔女性中检测到一种新的α链变异体，该变异体在阳离子交换高效液相色谱（HPLC）上与血红蛋白A2（Hb A2）一同洗脱。通过电喷雾电离质谱（ESI-MS）鉴定该突变体为α46（CE4）苯丙氨酸→缬氨酸，这表明该变异是由于α1或α2珠蛋白基因第46密码子（TTC>GTC）处的单个碱基变化所致。
